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TYR Gene Albinism, oculocutaneous type 1B NGS Genetic Test

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TYR Gene Albinism, oculocutaneous type 1B NGS Genetic Test

Short Name: OCA1B NGS Test

Also known as: Oculocutaneous Albinism Type 1B Test, TYR Gene Mutation Analysis, OCA1B Genetic Test

TYR Gene Albinism, oculocutaneous type 1B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To detect mutations in the TYR gene for definitive diagnosis of oculocutaneous albinism type 1B, guiding clinical management and genetic counseling.

Test Code
4820
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree if available.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and family pedigree. No fasting required.
2
During the Test:Sample is processed in the lab using NGS technology for gene sequencing.
3
After the Test:Report is generated and shared with the patient via chosen method.

About This Test

Who Should Get This Test

To detect mutations in the TYR gene for definitive diagnosis of oculocutaneous albinism type 1B, guiding clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for TYR gene mutations is crucial for confirming OCA1B diagnosis and informing family planning and management strategies."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable for up to 1 week if refrigerated
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the TYR gene associated with oculocutaneous albinism type 1B.
📊

Positive

Mutation detected, consistent with OCA1B diagnosis. Recommend genetic counseling.

📊

Negative

No pathogenic mutation detected. Clinical correlation advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of albinism are present, for genetic counseling, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

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ComparisonTYR Gene Albinism, oculocutaneous type 1B NGS Genetic Test

Frequently Asked Questions

What is oculocutaneous albinism type 1B?
Oculocutaneous albinism type 1B (OCA1B) is a genetic disorder caused by mutations in the TYR gene, leading to reduced melanin production in the skin, hair, and eyes.
What causes OCA1B?
OCA1B is caused by mutations in the TYR gene, which encodes the enzyme tyrosinase essential for melanin synthesis.
What are the symptoms of OCA1B?
Symptoms include pale skin and hair, light-colored eyes, sensitivity to light, vision problems like nystagmus and strabismus, and increased risk of skin cancer.
How is OCA1B diagnosed?
Diagnosis involves clinical examination, eye exams, and genetic testing such as the TYR Gene NGS Test to confirm mutations.
What is the TYR gene?
The TYR gene provides instructions for making the enzyme tyrosinase, which is critical for melanin production in melanocytes.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a high-throughput technology that sequences DNA rapidly and accurately to detect genetic mutations.
What is the cost of the TYR Gene Albinism Test in India?
The cost is approximately INR 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw. Genetic results may have psychological implications, so counseling is recommended.
How can I interpret the test results?
Results should be interpreted by a geneticist or healthcare professional. Positive results indicate mutations linked to OCA1B, while negative results suggest no pathogenic variants detected.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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